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Section XIII: Genetics

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Example Genes Associated With Exercise Performance

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TABLE 13.1Example Genes Associated With Exercise Performance
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TABLE 13.1 Example Genes Associated With Exercise Performance
Gene Symbol Full Name Biological Function(s) Factor of Interest OMIM Number Gene Map Locus Clinical Relevance For More Information
ACE

Angiotensin I–Converting Enzyme

ACE plays an important role in the conversion of angiotensin I into angiotensin II, a potent vasopressor.

 Muscle mechanical efficiency 106180 17q23 Response to aerobic exercise training is dependent on ACE genotype. Williams, AG, and Rayson, MP: Nature 403:614–615, 2000.
ACTN3

Al pha-Actinin-3

ACTN3 regulates the expression of the actin-binding protein alpha-actinin and is expressed in type 2 (fast) skeletal muscle fibers.

 Muscle force generating capacity 102574 11q13-q14

The ACTN3 577R allele provides an advantage for power and sprint activities.

ACTN3 R577X genotype influences the response to strength training in older adults.

Yang, N, et al: Am J Hum Genetics 73:627–631, 2003.

Delmonico, MJ, et al: J Gerontol 62A(2): 206–212, 2007.
APOE

Apolipoprotein E

APOE is involved in lipid transport and metabolism. There are three alleles (variants) of this gene (APOE2, APOE3, and APOE4).

 High-density lipoprotein cholesterol (HDL-C) 107741 19q13.2

Ethnicity interacts with E2/3 genotype at the APOE gene locus to influence response to endurance training.

Physical activity participation may counteract the potentially deleterious effects of the APOE4 genotype on lipid profiles.

Obisesan, TO. et al: Metabolism 57: 1669–1676, 2008.

Bernstein, MS, et al: Arterioscler Thromb Vasc Bio 22(1): 133–140, 2002.

Based on: National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD): Entrez Gene. http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene. Accessed May 29, 2009. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD): Online Mendelian Inheritance in Man, OMIM (TM) http://www.ncbi.nlm.nih.gov/omim/. Accessed May 21, 2009. OMIM is a compendium of human genes and genetic phenotypes.

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Example Genes Associated With Musculoskeletal Conditions

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TABLE 13.2Example Genes Associated With Musculoskeletal Conditions
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TABLE 13.2 Example Genes Associated With Musculoskeletal Conditions
Gene Symbol Full Name Biological Function(s) Disease OMIM Number Gene Map Locus Clinical Relevance For More Information
COL9A2

Collagen, Type IX, Alpha-2; Trp 2 Allele

COL9A2 encodes one of the three alpha chains of type IX collagen, the major component of hyaline cartilage.

 Intervertebral disc degeneration 120260 1p33-p32.2 The Trp2 allele of COL9A2 is a risk factor for the development and severity of intervertebral disc degeneration. Jim, JJT, et al: Spine 30(24):2735–2742, 2005.
IL1B

Interleukin 1-Beta

This member of the interleukin 1 cytokine family is an important mediator of the acute inflammatory response.

 Rotator cuff lesions with shoulder stiffness 147720 20q14 Shoulder stiffness is associated with increased IL1B expression and with greater myofibroblast recruitment into the subacromial bursa in rotator cuff lesions. Ko JY, ...

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